Varaico: Literature-Extracted Genetic Variants

Gene:AMPD1
Variant:p.K283I
Back to variants list

AMPD1

NM_001172626.2:p.K283I

Associated Papers

Association of Genetically Predicted Activity of AMP Deaminase 1 with Clinical and Biochemical Parameters in Diabetic Individuals with Coronary Artery Disease.

Pietrzak-Nowacka M et al.

International Journal of Molecular Sciences, 2025

Muscle AMP deaminase activity was lower in Neandertals than in modern humans.

Macak D et al.

Nature Communications, 2025

PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.

Alfayyadh MM et al.

Clinical Genetics, 2025

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s008.xlsx › Pathogenic_Fam_A__references_

Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.

Perfilyeva A et al.

Disease Markers, 2022

Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.

Turner RM et al.

Journal of Clinical Medicine, 2019

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.

Rannou F et al.

Plos One, 2017

The sarcomeric M-region: a molecular command center for diverse cellular processes.

Hu LY et al.

Biomed Research International, 2015

AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.

Safranow K et al.

Journal of Applied Genetics, 2011

Pharmacogenomics of statin response.

Mangravite LM et al.

Current Opinion in Molecular Therapeutics, 2008

AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.

Hanisch F et al.

Journal of Neurology, 2008

Genetic risk factors associated with lipid-lowering drug-induced myopathies.

Vladutiu GD et al.

Muscle & Nerve, 2006

Haplotype analysis of human AMPD1 gene: origin of common mutant allele.

Toyama K et al.

Journal of Medical Genetics, 2004

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.

Isackson PJ et al.

Molecular Genetics and Metabolism, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."